Canonical Allele Identifier: CA323990270
Gene: PVALB HGNC NCBI

Linked Data

dbSNP Id: rs536566580
gnomAD v2: 22-37199840-A-T
gnomAD v3: 22-36803796-A-T
gnomAD v4: 22-36803796-A-T
MyVariant Identifiers: chr22:g.37199840A>T (hg19) chr22:g.36803796A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36803796A>T , CM000684.2:g.36803796A>T GRCh38
NC_000022.10:g.37199840A>T , CM000684.1:g.37199840A>T GRCh37
NC_000022.9:g.35529786A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.305-2878T>A MANE Select ENSP00000400247.2:n.305-2878T>A
ENST00000216200.9:c.305-2878T>A ENSP00000216200.5:n.305-2878T>A
ENST00000404171.1:c.209-2878T>A ENSP00000386089.1:n.209-2878T>A
ENST00000406910.6:c.351-2878T>A
ENST00000417718.6:c.305-2878T>A ENSP00000400247.2:n.305-2878T>A
NM_001315532.1:c.305-2878T>A NP_001302461.1:n.305-2878T>A
NM_002854.2:c.305-2878T>A NP_002845.1:n.305-2878T>A
NM_001315532.2:c.305-2878T>A MANE Select NP_001302461.1:n.305-2878T>A
NM_002854.3:c.305-2878T>A NP_002845.1:n.305-2878T>A
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